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Partnering Toward Discovery

Conversations in Research & Medicine

The Partnering Toward Discovery Lecture Series aims to bridge the gap between basic science and clinical research of relevant scientific questions regarding health and disease. The next event occurs on December 6, 2018, when the fascinating scientific and clinical success of research in spinal muscular atrophy is presented in a talk tilted "Spinal Muscular Atrophy: A Breakthrough in Translational Neurodegeneration Research" led by Dr. Charlotte Sumner, Professor of Neurology and Neuroscience. Dr. Jessica Nance, Assistant Professor of Neurology, and Daniel Ramos, a current neuroscience graduate student, will present fascinating insights on the scientific and clinical aspects of research that has led to promising treatments for SMA. The event occurs from 4:00 to 5:00 pm in the Welsh Library, West Reading Room. Light food and beverages will be served.

Speaker Bios:

Charlotte J. Sumner, MD is Professor of Neurology and Neuroscience at Johns Hopkins University School of Medicine. Dr. Sumner cares for patients with inherited diseases of motor neurons and peripheral nerves such as spinal muscular atrophy (SMA) and Charcot-Marie-Tooth (CMT) disease and co-directs the Johns Hopkins CMT and SMA clinics. Dr. Sumner’s research focuses on the genetic and cellular pathogenesis of SMAs with particular attention to therapeutics development for these disorders utilizing cell and mouse models and human tissues. She is the lead editor on the recently published first comprehensive book on SMA pathogenesis and treatment development, and serves as an advisor to several companies developing treatments for SMA.

Jessica Nance, MD is an Assistant Professor of Neurology at Johns Hopkins University School of Medicine. She is a pediatric neurologist with specialty training in pediatric neuromuscular disorders. Dr. Nance currently sees patients with neuromuscular disorders in the muscular dystrophy association clinic. Her research focuses on development of functional outcome measures and optimization of clinical trial design for pediatric neuromuscular diseases. She is an investigator in several therapeutic clinical trials for treatment of neuromuscular disorders, including trials for genetic therapies for spinal muscular atrophy.

Daniel Ramos is a graduate student of Neuroscience at Johns Hopkins University School of Medicine. Dan joined Dr. Sumner’s lab in 2014 and is preparing for graduation. His research focuses on the basic biology of ‘survival motor neuron’ (SMN), the disease-causing gene in spinal muscular atrophy (SMA). His goal is to understand how non-protein-coding RNAs contribute to SMN expression and how they may be leveraged as an avenue for developing SMA therapeutics.